Detalhe da pesquisa
1.
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.
J Med Genet
; 55(5): 351-358, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437868
2.
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.
J Inherit Metab Dis
; 41(1): 141-149, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29039131
3.
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
J Am Soc Nephrol
; 28(5): 1631-1641, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27979989
4.
Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.
Mol Genet Metab
; 121(2): 157-161, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28495078
5.
Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort.
Mol Genet Metab
; 117(2): 194-8, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26654842
6.
Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature.
Br J Haematol
; 161(6): 832-42, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23594419
7.
Adaptive pathway development for Fabry disease: a clinical approach.
Drug Discov Today
; 23(6): 1251-1257, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29455022
8.
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
Invest Ophthalmol Vis Sci
; 48(12): 5690-8, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18055821
9.
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
Arch Ophthalmol
; 125(7): 932-5, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17620573
10.
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.
PLoS One
; 12(8): e0182379, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28763515
11.
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
Mol Vis
; 11: 263-73, 2005 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15851977
12.
Quality of life in patients with Fabry disease: a systematic review of the literature.
Orphanet J Rare Dis
; 10: 77, 2015 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26076709
13.
FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex.
Exp Cell Res
; 313(19): 3959-70, 2007 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17920587
14.
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
Am J Hum Genet
; 79(3): 556-61, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16909394